1/15. Unusual chromosome patterns of renal cell carcinomas common to two brothers.In this study, we describe two renal cell carcinomas (RCC) that occurred at the same time in two brothers, yielding information on the carcinogenic process. We used flow cytometry (FCM) to evaluate nuclear dna content, and performed cytogenetic analysis. We also carried out fluorescence in situ hybridization (FISH) with a panel of centromeric probes for chromosomes 3, 7, 8, 9, 12, 17, 20, and Y in interphase cells. flow cytometry analysis revealed diploid histograms in the tumor and "nonmalignant" samples of patient 1, while an aneuploid cell subpopulation was found in the tumor and "nonmalignant" samples of patient 2. Tumor samples from the two brothers were studied by FISH, and had common numerical chromosome aberrations: trisomy of chromosomes 3 and 7, and monosomy and trisomy of chromosomes 9 and 17. Moreover, in normal samples from both brothers, we found monosomy 9, and in a normal sample from patient 1, monosomy 17. cytogenetic analysis revealed trisomy 3 in some cells grown from normal kidney tissue of each brother. The identification of the same chromosome alterations in both brothers appears to provide evidence of an unusual process of carcinogenesis, probably due to a common genetic basis.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/15. Suppression subtractive hybridization for identifying differentially expressed genes in renal cell carcinoma.OBJECTIVE: To construct a renal cell carcinoma (RCC) cDNA subtractive library using suppression subtractive hybridization. methods: Polyadenylated rna [Poly (A) rna] was isolated from tissues of RCC and normal kidney, and single-strand cDNAs and double-strand cDNAs were synthesized in turn. RCC cDNAs were divided into two groups and ligated to the specific adaptors I and 2, and then hybridized with normal kidney cDNA twice with two rounds of suppression PCR. Second round PCR products were cloned to T/A plasmid vectors to set up the subtractive library. One hundred clones were randomly picked to perform enzyme digest analysis, and some underwent sequence analysis and Northern blot to identify RCC specifically expressed genes. SMART RACE procedure was operated to clone full length novel RCC specifically expressed genes. RESULTS: A human RCC subtractive library with high subtractive efficiency was successfully set up. The amplified library contains 350 positive clones. Random analysis of 100 clones with enzyme restriction showed that 85 plasmids in the clones contained 50-400 bp inserts. sequence analysis was performed for 10 clones. All the 10 sequences were unknown before and derived from 6 unique, novel genes among which the cDNA insert RCC18 had five copies. Northern blot analysis showed that RCC18 cDNA was highly expressed in RCC, but no signal could be detected in normal kidney. Using SMART RACE technique, we obtained the full length of the novel gene RCC18. CONCLUSIONS: The constructed cDNA subtractive library of human RCC is a highly efficient one and lays a solid foundation for large scale screening and cloning new and specific oncogenes or tumor suppressor genes of RCC. The novel specifically expressed genes provided an important clue for studying the mechanisms of occurrence and development of RCC.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
3/15. Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases.Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/15. Simultaneous heterogenotypic renal cell carcinoma: immunohistochemical and karyoptic analysis by comparative genomic hybridization.We report a rare collision tumor of a nodule-in-nodule pattern between a clear cell-type carcinoma and a collecting duct carcinoma in a 24-year-old man. Whereas the outer nodule is quite different from the 'conventional renal cell carcinoma (RCC)' with respect to vascularity, the inner nodule is quite distinctive as regards immunophenotype and karyotype results. karyotyping the latter by means of comparative genomic hybridization (CGH) disclosed gains of chromosome regions in 1q21.2-qter, 5q21-qter, 6q16.3-qter and 17q21.2-qter along with a loss in 1p21-p31.14, 9q31-pter, 11, 13q12-qter, 15q12-qter and 18q21.1-qter. The clear cell carcinoma surrounding the daughter nodule revealed no 3p loss by means of CGH, unlike most cases of conventional RCC that are seemingly associated with poor vasculature. In summary, to our knowledge, this is the first reported case of an unclassified RCC featuring a unique growth pattern composed of a mixed clear cell type without a 3p loss and a variant of CDC with a unique karyotypic alteration.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
5/15. Chromophobe renal cell carcinoma with microcystic and adenomatous arrangement and pigmentation--a diagnostic pitfall. Morphological, immunohistochemical, ultrastructural and molecular genetic report of 20 cases.We present clinical, morphological, immunohistochemical, ultrastructural and molecular genetic features of 20 cases of a peculiar form of chromophobe renal cell carcinoma (CRCC) with morphology differing from that of conventional CRCC. Microscopically, the typical features of the tumors were microcystic arrangement and formation of adenomatous structures. Microcystic areas were composed of smaller eosinophilic and bigger pale cells having cytological appearance typical of conventional CRCC. Cytological features of the adenomatous structures were mostly different from those of conventional CRCC. They had a typical columnar arrangement with nuclei positioned at the base of the glandular structures and a small amount of a deeply eosinophilic cytoplasm often endowed with brush border facing the lumen of the glands. In addition, all the tumors showed a brown pigmentation. The pigmentation was located mostly extracellularly, where it formed pools of heavy deposits. Microscopic calcifications present in all cases formed psammoma bodies or else the calcifications were more extensive and amorphous in shape. Ultrastructurally, the cells showed features characteristic of CRCC: typical cytoplasmic vesicles were 100-700 nm in size and mitochondria had tubulovesicular, lamellar or circular cristae. Some tumor cells contained dark, variously sized electron-dense pigment granules. Neither melanosomes nor membrane-bound neurosecretory granules were seen. Using fluorescence in-situ hybridization probes for chromosomes 1, 2, 6, 10, 13, 17 and 21, the tumors revealed massive loss of tested chromosomes typical for conventional CRCC. monosomy of chromosomes 1, 2, 6, 10, 13 and 21 was found in 100, 36, 91, 82, 82, 82 and 64% of cases, respectively. None of the cases showed mutation of exons 9, 11, 13 and 17 of the c-kit gene. The important feature of pigmented microcystic chromophobe renal cell carcinoma is a relatively benign biological behavior and the absence of distant metastases and sarcomatoid transformation.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/15. Genomic aberrations in mucinous tubular and spindle cell renal cell carcinomas.Mucinous tubular and spindle cell carcinoma of the kidney is a new diagnostic entity. We present the pathologic and genomic characteristics of three such low-malignant tumors. Two of the tumors were found in women aged 19 and 52 years, the third tumor was found in an 80-year-old man, and the tumor stages were pT2N0MX, pT2NXMX, and pT1NXMX, respectively. Findings by immunohistochemistry were similar but not identical for the three cases; markers for both proximal and distal parts of the nephron were expressed in each tumor, a finding that is in agreement with data from previous studies. The Ki-67-labeling index was below 5 in all three cases. Two of the tumors were predominantly hypodiploid (dna-indexes 0.77 and 0.80), whereas the third tumor was hypertriploid (1.57) as measured by dna-image cytometry. From the latter tumor live cells were available making it possible to establish its karyotype: 62-70,XXX, del(X)(q11),-1, 2, 4,-5,-6, 7,-8,-9,-10,-11, 12,-13,-14,-15, 16, 17, 1 8,-19, 20, 21,-22[cp15]. interphase fluorescence in situ hybridization analyses with centromere-specific probes for chromosomes 1, 3, 4, 6, 7, 9, 10, 17, 18, 20, and X showed that the two hypodiploid tumors had disomic and monosomic chromosome populations, whereas the karyotyped, near-triploid tumor was dominated by trisomic chromosome populations. comparative genomic hybridization analysis was normal for the karyotyped tumor but abnormal for the two others. We conclude that multiple numerical chromosome aberrations may be a feature of mucinous tubular and spindle cell carcinomas of the kidney, but beyond that no clear-cut karyotypic aberration pattern is so far discernible.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
7/15. Abnormal fluorescence in situ hybridization analysis in collecting duct carcinoma.Renal collecting duct carcinoma is a rare form of renal cancer known to present in a variety of ways that are often similar to presentations of renal cell carcinoma or transitional cell carcinoma. Little information is available concerning the use of cytology and fluorescence in situ hybridization (FISH) in the diagnosis of collecting duct carcinoma. The available literature contains cases with atypical cytology, but no collecting duct carcinoma cases with abnormal FISH results have been reported. We report a case of renal collecting duct carcinoma presenting with atypical cytology and abnormal FISH results.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
8/15. Insertion (8;11) in a renal oncocytoma with multifocal transformation to chromophobe renal cell carcinoma.We report the case of a 43-year-old male with multiple tumor foci showing microscopic features of chromophobe renal carcinoma (ChRCC) arising in an oncocytoma. Conventional cytogenetics of fresh tumor cells and fluorescence in situ hybridization (FISH) revealed the following abnormal karyotype: 46,XY,der(8)ins(8;11)(p?;q13),der(11)ins(8;11)inv(11)(q12?p15) with CCND1 (11q13) rearrangement. To our knowledge, chromosome 8 has not been reported as a partner involved in structural rearrangements of 11q13 in oncocytomas. FISH in paraffin tissue sections revealed a rearrangement of CCND1 (11q13) in the oncocytoma cells. The multiple foci of chromophobe carcinoma presented multiple copies of CCND1, suggesting that they represented a transformation from oncocytoma into ChRCC. There was immunohistochemical overexpression of CCND1 in both oncocytoma and chromophobe carcinoma cells. In this case, the correlation of the microscopic findings with changes in CCND1 gene associated to CCND1 overexpression in both components suggest that the ChRCC would have originated from the preexisting oncocytoma. It is not possible to detect, by cytogenetic techniques alone, if the ChRCC component have also the CCND1 rearrangement in addition to the detected polysomy. FISH techniques on paraffin tissue sections may help to identify genetic aberrations such as CCND1 rearrangement in order to establish a diagnosis of oncocytoma.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/15. Thyroid follicular carcinoma-like tumor of kidney: a case report with morphologic, immunohistochemical, and genetic analysis.We present an unusual renal tumor, which has not been classified under a known subtype of renal cell carcinoma (RCC) and characteristically shows similar histology to thyroid follicular carcinoma. The patient was a 32-year-old asymptomatic woman who was found to have a kidney mass during her annual physical examination. She had no lesions in the thyroid during physical and ultrasound examinations, and there was no abnormal thyroid function test. Neither mediastinal nor ovarian abnormalities were observed. The resected kidney showed a well-defined nodular tumor measuring 11.8x8.0x8.0 cm. The mass was protruding into the pelvic cavity with areas of yellowish geographic necrosis. Histologically, the tumor showed follicular architectures with inspissated colloid-like material in their lumina. No conventional (clear cell) RCC or any other known subtypes of RCC component was observed. Immunohistochemically, the tumor cells showed intensive staining for cytokeratin (CK) cocktail AE1/AE3 and CD10 and were not reactive to thyroid transcription factor-1 and thyroglobulin. The staining of CK35betaH11 and vimentin revealed focal cytoplasmic reaction. The tumor cells were completely negative for CK7, CK19, CK20, CK34betaE12, carcinoembryonic antigen, epithelial membrane antigen, and CD15. Chromosomal gains of 7q36, 8q24, 12, 16, 17p11-q11, 17q24, 19q, 20q13, 21q22.3, and Xp and losses of 1p36, 3, and 9q21-33 were detected by comparative genomic hybridization. These findings are dissimilar to previously classified renal neoplasm. Only a report that included three cases of primary thyroid-like renal tumor has been described in the abstract form. However, there is no fully documented case on this unusual form of RCC, which morphologically resembles that of thyroid follicular carcinoma. Herein, we present a new case of thyroid follicular carcinoma-like tumor of the kidney with a chromosomal study and review of the literature.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/15. Oncocytic papillary renal cell carcinoma: a clinicopathologic, immunohistochemical, ultrastructural, and interphase cytogenetic study of 12 cases.Papillary renal cell carcinoma (RCC) is subclassified in type 1 displaying cells with scanty pale cytoplasm arranged in a single layer and in type 2 showing pseudostratified cells with eosinophilic cytoplasm. However, the existence of more variants of papillary RCC may be inferred by the recognition of few cases with different morphological features. We report the clinicopathologic, immunohistochemical, ultrastructural, and interphase cytogenetic features of 12 papillary RCC composed by oncocytes. Ten patients were males and their median age was 67 years. The tumors were well demarcated and their median diameter was 7.1 cm. Solid oncocytoma-like areas occurred in 11 cases. The cytoplasm of the neoplastic cells was filled by mitochondria with lamellar cristae. All cases were positive for the antimitochondrial antigen and racemase and showed variable immunoreactivity for cytokeratins (AE1/AE3, CK8-18, CK7, CK19), EMA, CD10, vimentin, and parvalbumin. MIB1 was detected in 0 to 6 cells per 1 high-power field. Fluorescent in situ hybridization analysis on formalin-fixed paraffin-embedded tissue showed three or more signals for chromosome 7 and 17 (for both > or =30% of nuclei in 7 of 12 neoplasms). In males, signals of chromosome Y were absent in more than 80% of the neoplastic nuclei. One patient died of metastases. interphase cytogenetic analysis by fluorescent in situ hybridization can be a diagnostic tool in cases mimicking an oncocytoma.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
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